Canonical Allele Identifier: PA115763
Gene: GBE1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.3:p.Gln236His
CA115762
NM_000158.3:c.708G>C
CA353688164
NM_000158.3:c.708G>T